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VWF c.8411G>A ;(p.C2804Y)
Variant ID: 12-6058212-C-T
NM_000552.3(
VWF
):c.8411G>A;(p.C2804Y)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The disulfide bond Cys2724-Cys2774 in the C-terminal cystine knot domain of von Willebrand factor is critical for its dimerization and secretion.
Thrombosis Journal
Zhang, Yuxin Y; Chen, Fengwu F; Yang, Aizhen A; Wang, Xiaoying X; Han, Yue Y; Wu, Depei D; Wu, Yi Y; Zhang, Jingyu J
Publication Date: 2021-11-27
Variant appearance in text: VWF: C2804Y
PubMed Link:
34838051
Variant Present in the following documents:
Main text
12959_2021_Article_348.pdf
View BVdb publication page
Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.
Blood
Zhou, Yan-Feng YF; Springer, Timothy A TA
Publication Date: 2014-03-20
Variant appearance in text: VWF: C2804Y
PubMed Link:
24394662
Variant Present in the following documents:
Main text
View BVdb publication page